Evidence map›Paper›PMID 38612920›Full record

ReviewInternational journal of molecular sciences2024

X-Linked Epilepsies: A Narrative Review.

Pia Bernardo, Claudia Cuccurullo, Marica Rubino, Gabriella De Vita, Gaetano Terrone, Leonilda Bilo, Antonietta Coppola

Open access · goldAbstract readReview
In one paragraph

Review in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
5.5field-weighted citation impact, top 4% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. NovelHuman mutation · 2026
    Article
  6. Article
  7. Article
  8. Life (Basel, Switzerland) · 2025
    Article
  9. Article
  10. Review
  11. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 1 country.

Pia BernardoPediatric Psychiatry and Neurology Unit, Department of Neurosciences, Santobono-Pausilipon Children's Hospital, 80129 Naples, Italy.ORCID 0000-0002-4150-1624
Claudia CuccurulloNeurology and Stroke Unit, Ospedale del Mare Hospital, ASL Napoli 1 Centro, 80147 Naples, Italy.
Marica RubinoDepartment of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, 80131 Naples, Italy.
Gabriella De VitaDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.
Gaetano TerroneChild Neuropsychiatry Units, Department of Translational Medical Sciences, University Federico II of Naples, 80131 Naples, Italy.ORCID 0000-0002-0298-0714
Leonilda BiloDepartment of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, 80131 Naples, Italy.ORCID 0000-0002-9817-4193
Antonietta CoppolaDepartment of Neurosciences, Reproductive Sciences and Odontostomatology, University Federico II of Naples, 80131 Naples, Italy.ORCID 0000-0002-6596-3065
University of Naples Federico II · ITFederico II University Hospital · ITSantobono Children's Hospital · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked epilepsies are a heterogeneous group of epileptic conditions, which often overlap with X-linked intellectual disability. To date, various X-linked genes responsible for epilepsy syndromes and/or developmental and epileptic encephalopathies have been recognized. The electro-clinical phenotype is well described for some genes in which epilepsy represents the core symptom, while less phenotypic details have been reported for other recently identified genes. In this review, we comprehensively describe the main features of both X-linked epileptic syndromes thoroughly characterized to date (

Indexed as

EpilepsySpasms, InfantileEpigenesis, GeneticFemaleGenes, cdcGenes, X-LinkedGuanine Nucleotide Exchange FactorsHumansN-AcetylglucosaminyltransferasesProrenin ReceptorProtocadherinsRho Guanine Nucleotide Exchange FactorsALG13 protein, humanARHGEF9 protein, humanATP6AP2 protein, humanGuanine Nucleotide Exchange FactorsIQSEC2 protein, humanN-AcetylglucosaminyltransferasesPCDH19 protein, humanProrenin ReceptorProtocadherinsRho Guanine Nucleotide Exchange Factorsdevelopmental and epileptic encephalopathies (DEEs)epilepsygeneticsX-linked

Identifiers

PMID38612920
PMCPMC11012983
OpenAlexW4394579805

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.